Varaico: Literature-Extracted Genetic Variants

Gene:KISS1R
Variant:p.C389*
Back to variants list

KISS1R

NM_032551.5:p.C389*

Associated Papers

STARD9 and CDK5RAP2-Novel Candidate Genes for 46,XY Complete Gonadal Dysgenesis.

Sirokha D et al.

International Journal of Molecular Sciences, 2025

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Milanowski LM et al.

International Journal of Molecular Sciences, 2022

35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Heterozygotes

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.

Känsäkoski J et al.

Pediatric Research, 2014

The kisspeptin signaling pathway and its role in human isolated GnRH deficiency.

Wahab F et al.

Molecular and Cellular Endocrinology, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."